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rs782345472

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs782345472(C;T)
Make rs782345472(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144359997
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs782345472
ebirs782345472
HLIrs782345472
Exacrs782345472
Varsomers782345472
Maprs782345472
PheGenIrs782345472
hapmaprs782345472
1000 genomesrs782345472
hgdprs782345472
ensemblrs782345472
gopubmedrs782345472
geneviewrs782345472
scholarrs782345472
googlers782345472
pharmgkbrs782345472
gwascentralrs782345472
openSNPrs782345472
23andMers782345472
23andMe allrs782345472
SNP Nexus

SNPshotrs782345472
SNPdbers782345472
MSV3drs782345472
GWAS Ctlgrs782345472
Max Magnitude0
ClinVar
Risk rs782345472(T;T)
Alt rs782345472(T;T)
Reference Rs782345472(C;C)
Significance Probable-Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 2
Variation info
Gene FBXL6 SLC52A2
CLNDBN Brown-Vialetto-Van Laere syndrome 2
Reversed 0
HGVS NC_000008.10:g.145583657C>T
CLNSRC
CLNACC RCV000193941.1,